TY - JOUR
T1 - Favorable prognosis for children with Pfeiffer syndrome types 2 and 3
T2 - Implications for classification
AU - Robin, Nathaniel H.
AU - Scott, Jennifer A.
AU - Arnold, James E.
AU - Goldstein, Jeffrey A.
AU - Shilling, Bruce B.
AU - Marion, Robert W.
AU - Cohen, M. Michael
PY - 1998/1/23
Y1 - 1998/1/23
N2 - Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.
AB - Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad and medially deviated thumbs and great toes. It is a clinically variable disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are the more severe cases. These latter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy. Here we review the clinical course of seven children with PS type 3. All of these children had severe manifestations of PS; however, development was essentially normal in three, mild delay was noted in two, and moderate delay in one. Favorable outcomes in children with types 2 and 3 PS were also documented by Moore et al. [1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while children with PS types 2 and 3 have an increased risk for neurodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management. Finally, although such management should be the rule for PS types 2 and 3, it needs to be remembered that normal outcome is not the rule. The prognosis for favorable neurodevelopmental outcome and/or life expectancy remains guarded in most cases.
KW - Aggressive management
KW - Cloverleaf skull
KW - Developmental outcome
KW - Normal development
KW - Pfeiffer syndrome types 2 and 3
KW - Severe Pfeiffer syndrome
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U2 - 10.1002/(SICI)1096-8628(19980123)75:3<240::AID-AJMG2>3.0.CO;2-U
DO - 10.1002/(SICI)1096-8628(19980123)75:3<240::AID-AJMG2>3.0.CO;2-U
M3 - Article
C2 - 9475589
AN - SCOPUS:0032559251
SN - 0148-7299
VL - 75
SP - 240
EP - 244
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -